| Literature DB >> 3118036 |
J Gattuso1, M A Patton, M Baraitser.
Abstract
Three new cases of the Fraser syndrome are presented and 68 published cases are reviewed. A quantitative estimate of the frequency of clinical manifestations is given. Craniofacial abnormalities were reported in all patients, cryptophthalmos in 93%, and syndactyly in 54%. Abnormalities of the ears, nose, genitalia, and urinary system were reported in 44%, 37%, 49%, and 37% of cases respectively. This variability should be taken into account when attempting prenatal diagnosis; a combination of ultrasound and fetoscopy should provide the best approach. Of the reported cases 26% were stillborn and 19% died in the first year of life. Renal and pulmonary malformations were associated with early death.Entities:
Mesh:
Year: 1987 PMID: 3118036 PMCID: PMC1050267 DOI: 10.1136/jmg.24.9.549
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318